Article
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.
PloS one - 1 Jan 2013
Risom Lotte, Christoffersen Line, Daugaard-Jensen Jette, Hove Hanne Dahlgaard, Andersen Henriette Skovgaard, Andresen Brage Storstein, Kreiborg Sven, Duno Morten
Abstract excerpt
Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important...
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